Linked Life Data

16950754

Source:http://linkedlifedata.com/resource/pubmed/id/16950754

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2006-9-4
pubmed:abstractText
An 18-year old, phenotypically female individual was examined for primary amenorrhea. Three months before her referral, the patient underwent surgery and a pelvic mass was removed. The physical examination revealed normal female external genitalia, normal breast development, sparse pubic hair and absence of axillary hair. The gynecological examination revealed a short blind vagina pouch and absence of cervix and uterus. Serum testosterone and dihydrotestosterone levels were very high. Karyotype was that of a normal male (46,XY). The transabdominal ultrasound, computed tomography (CT) and Magnetic resonance imaging (MRI) showed absence of uterus and fallopian tubes and revealed testis-like gonads located at the internal opening of the inguinal canal bilaterally. Bilateral gonadectomy was subsequently performed. The pathology report was that of "hamartomatous testes" and associated paratesticular leiomyoma. The clinical, laboratory, imaging, genetic and histological findings confirmed the diagnosis of complete androgen insensitivity syndrome. DNA analysis revealed a R831X mutation in exon 7 of the androgen receptor gene. A Sertoli-cell dynamic test showed elevated basal serum inhibin-B and anti-Müllerian hormone levels without further rise following FSH stimulation. The patient was started on hormone replacement therapy with conjugated estrogens. Complete androgen insensitivity syndrome must be considered in any case of primary amenorrhea. Gonadectomy must be planned to eliminate the risk of gonadal malignancy.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1109-3099
pubmed:author
pubmed:issnType
Print
pubmed:volume
5
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
200-4
pubmed:dateRevised
2008-3-17
pubmed:meshHeading
pubmed-meshheading:16950754-Adolescent, pubmed-meshheading:16950754-Androgen-Insensitivity Syndrome, pubmed-meshheading:16950754-Anti-Mullerian Hormone, pubmed-meshheading:16950754-Dihydrotestosterone, pubmed-meshheading:16950754-Female, pubmed-meshheading:16950754-Follicle Stimulating Hormone, pubmed-meshheading:16950754-Glycoproteins, pubmed-meshheading:16950754-Hamartoma, pubmed-meshheading:16950754-Humans, pubmed-meshheading:16950754-Karyotyping, pubmed-meshheading:16950754-Leydig Cells, pubmed-meshheading:16950754-Male, pubmed-meshheading:16950754-Phenotype, pubmed-meshheading:16950754-Point Mutation, pubmed-meshheading:16950754-Receptors, Androgen, pubmed-meshheading:16950754-Sertoli Cells, pubmed-meshheading:16950754-Testicular Diseases, pubmed-meshheading:16950754-Testicular Hormones
pubmed:articleTitle
R831X mutation of the androgen receptor gene in an adolescent with complete androgen insensitivity syndrome and bilateral testicular hamartomata.
pubmed:affiliation
Unit of Reproductive Endocrinology, First Department of Obstetrics and Gynecology, Papageorgiou General Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece. dgg30@otenet.gr
pubmed:publicationType
Journal Article, Case Reports